First-of-its-Kind Initiative Aims to Unlock the Genetic Secrets of Epilepsy

Three million Americans currently live with epilepsy and 30-40 percent have uncontrollable seizures – of which genetics is proving to be a major cause. Citizens United for Research in Epilepsy (CURE) today announced the launch of its new signature program, the Epilepsy Genetics Initiative (EGI) – a first-of-its-kind database for epilepsy that aims to unlock the genetic secrets of the disease, driving research into its causes and treatments to ultimately find a cure for epilepsy.

The John and Barbara Vogelstein Foundation is the principal sponsor of EGI, having generously committed $1 million to the project over 3 years. “We think that genetics are the next frontier for epilepsy treatment,” said John Vogelstein. “We know firsthand how devastating epilepsy can be. We’re confident that with CURE’s leadership, EGI can provide families with answers, and researchers with the tools to find a cure.”
For patients diagnosed with epilepsy, initial analysis of their DNA may not identify a cause for the disease. EGI will permit for reanalysis as breakthrough genetic discoveries are made, linking patients, physicians and scientists together to better customize treatment for different forms of epilepsy.

“We now know that finding the genetic cause of a patient’s epilepsy can tell us how best to treat that patient. Getting the diagnosis right depends on a thorough and comprehensive analysis of each patient’s genetic data and being able to directly compare data against the largest possible number of patients with a similar diagnosis,” said David B. Goldstein, director of the Institute of Genomic Medicine at Columbia University Medical Center. “EGI will help to ensure that every patient benefits from the remarkable advances in epilepsy genetics and the emerging paradigm of targeting treatments to the exact underlying causes of epilepsy.”

“The primary idea behind EGI is to capture and centralize genetic data for repeat analysis with the most cutting-edge methods and the most current knowledge,” explained Dr. Tracy Dixon-Salazar, associate research director at CURE and mother of a child with severe epilepsy whose condition has been improved by exome sequencing. “Nearly one-third of all those living with epilepsy deal with uncontrolled seizures, living day-to-day at the hand of epilepsy. For these one million people, they come in unannounced and uninvited and rock your world – EGI can get us closer to identifying treatments and cures to help these and others living with epilepsy.”
EGI will allow for the discovery of additional genetic mutations that cause epilepsy, which can lead to better patient care. Knowing a person’s genetic makeup can better inform a physician’s diagnosis and treatment of epilepsy, in addition to a better understanding of why some epilepsy patients experience other conditions such as depression, autism or cognitive challenges.

“EGI has the potential to accelerate our understanding of the genetic causes of epilepsy by leaps and bounds,” said Susan Axelrod, founding chair of CURE. “Through this initiative, we can truly transform the way we diagnose and, most importantly, treat patients with epilepsy. EGI is paving the way for a future of personalized, precision medicine with the support of an unprecedented team.”

EGI is open to anyone who has epilepsy and has access to one of the official or remote enrollment sites. There are two ways to enroll – directly at one of the eight official EGI enrollment locations or by contacting CURE, who will help guide patients to a site that does remote enrollment in the program. Current EGI enrollment sites and academic partners include:

• Ann & Robert H. Lurie Children’s Hospital of Chicago
• Boston Children’s Hospital
• Duke University
• Columbia University
• New York University School of Medicine
• The Children’s Hospital of Philadelphia
• The University of Melbourne
• University of California San Francisco

EGI has been established in partnership with the National Institute of Neurological Disorders and Stroke.